Literature DB >> 8432549

In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.

R A Anderson1, N Rao, R S Byrum, C B Rothschild, D W Bowden, R Hayworth, M Pettenati.   

Abstract

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Year:  1993        PMID： 8432549     DOI： 10.1006/geno.1993.1052

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  23 in total

1.  Wolman's disease.

Authors:  P M Swamy; H B Mallikarjuna; C C Shantala; S Prashanth; P P Maiya; C Dandekar
Journal:  Indian J Pediatr       Date:  1997 Jul-Aug       Impact factor: 1.967

2.  A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.

Authors:  Philipp S Wild; Tanja Zeller; Arne Schillert; Silke Szymczak; Christoph R Sinning; Arne Deiseroth; Renate B Schnabel; Edith Lubos; Till Keller; Medea S Eleftheriadis; Christoph Bickel; Hans J Rupprecht; Sandra Wilde; Heidi Rossmann; Patrick Diemert; L Adrienne Cupples; Claire Perret; Jeanette Erdmann; Klaus Stark; Marcus E Kleber; Stephen E Epstein; Benjamin F Voight; Kari Kuulasmaa; Mingyao Li; Arne S Schäfer; Norman Klopp; Peter S Braund; Hendrik B Sager; Serkalem Demissie; Carole Proust; Inke R König; Heinz-Erich Wichmann; Wibke Reinhard; Michael M Hoffmann; Jarmo Virtamo; Mary Susan Burnett; David Siscovick; Per Gunnar Wiklund; Liming Qu; Nour Eddine El Mokthari; John R Thompson; Annette Peters; Albert V Smith; Emmanuelle Yon; Jens Baumert; Christian Hengstenberg; Winfried März; Philippe Amouyel; Joseph Devaney; Stephen M Schwartz; Olli Saarela; Nehal N Mehta; Diana Rubin; Kaisa Silander; Alistair S Hall; Jean Ferrieres; Tamara B Harris; Olle Melander; Frank Kee; Hakon Hakonarson; Juergen Schrezenmeir; Vilmundur Gudnason; Roberto Elosua; Dominique Arveiler; Alun Evans; Daniel J Rader; Thomas Illig; Stefan Schreiber; Joshua C Bis; David Altshuler; Maryam Kavousi; Jaqueline C M Witteman; Andre G Uitterlinden; Albert Hofman; Aaron R Folsom; Maja Barbalic; Eric Boerwinkle; Sekar Kathiresan; Muredach P Reilly; Christopher J O'Donnell; Nilesh J Samani; Heribert Schunkert; Francois Cambien; Karl J Lackner; Laurence Tiret; Veikko Salomaa; Thomas Munzel; Andreas Ziegler; Stefan Blankenberg
Journal:  Circ Cardiovasc Genet       Date:  2011-05-23

3.  Orthotopic liver transplantation in an adult with cholesterol ester storage disease.

Authors:  Graeme K Ambler; Matthew Hoare; Rebecca Brais; Ashley Shaw; Andrew Butler; Paul Flynn; Patrick Deegan; William J H Griffiths
Journal:  JIMD Rep       Date:  2012-07-24

Review 4.  Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.

Authors:  Tyler J Severson; Siddesh Besur; Herbert L Bonkovsky
Journal:  World J Gastroenterol       Date:  2016-08-07       Impact factor: 5.742

5.  Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).

Authors:  S Muntoni; H Wiebusch; H Funke; E Ros; U Seedorf; G Assmann
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  Intragenic deletion as a novel type of mutation in Wolman disease.

Authors:  Teresa M Lee; Mariko Welsh; Sonia Benhamed; Wendy K Chung
Journal:  Mol Genet Metab       Date:  2011-09-14       Impact factor: 4.797

Review 7.  From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.

Authors:  Sylvia T Nurnberg; Hanrui Zhang; Nicholas J Hand; Robert C Bauer; Danish Saleheen; Muredach P Reilly; Daniel J Rader
Journal:  Circ Res       Date:  2016-02-19       Impact factor: 17.367

8.  A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

Authors:  H Klima; K Ullrich; C Aslanidis; P Fehringer; K J Lackner; G Schmitz
Journal:  J Clin Invest       Date:  1993-12       Impact factor: 14.808

9.  Localised massive tumourous xanthomatosis of the small intestine.

Authors:  N Melling; E Bruder; A Dimmler; W Hohenberger; T Aigner
Journal:  Int J Colorectal Dis       Date:  2007-07-05       Impact factor: 2.571

10.  A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations.

Authors:  S Muntoni; H Wiebusch; H Funke; U Seedorf; M Roskos; H Schulte; K Saku; K Arakawa; A Balestrieri; G Assmann
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132
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